Genetics often plays a role triggering different sarcomas, but, as with most cancers, there seldom is a single cause. This makes treating sarcoma that much more difficult. In turn research into sarcoma, like other rare diseases, is stymied by how rare these cancers are, but Demetri’s work at the Dana-Farber’s Center offers much to be hopeful about.
Demetri, who has had his share of practice-changing clinical breakthroughs, mostly notably with treating gastrointestinal stromal tumors, is excited by some of the preliminary research 23andMe is already compiling around our Sarcoma research community. He said the model for our research platform — crowd-sourced, Internet-based and web-driven genetic studies — is something he has long envisioned as a way to improve medical research and treatment.

23andMe: You anticipated using the Internet to connect patients to doctors and researchers long before 23andMe created its Sarcoma Community. Where did that idea come from and how does 23andMe’s work mesh with what you’d hope to see?

Demetri: For me the whole idea of using the Internet was about finding the right patients who have the disease under interest because it was very clear that the tools we use to diagnose a disease are not sufficiently powerful … cancer it’s not one disease. Sarcomas under the microscope look very different. When we start diving into the chromosomes they were completely different. And when we started diving into the genetics they couldn’t be more different … (W)hen you peer into that looking glass you see that there are a thousand different kinds of sarcomas. You run into a problem if they are only one percent of all cancers and you have 1,000 different diseases, there are not a lot of people with any one kind of those cancers … You have to do the E-Harmony trick. You have to match the right patients to the right drugs. 23andMe is the perfect tool for that.
Nine out of ten cancer drugs we have today fail in clinical trails and that’s because nobody’s paying attention to this important matching of what’s driving the patient with the cancer to the drug that works for that cancer. To do that you need to put another filter on the traditional clinical trials methodology where you don’t just take everybody who walks in the door with a given type of cancer. Instead you take the patients with the right kind of genetics and you actually select for them.
It’s the same kind of issue that patients have. They want their medicine personalized. And you know we hear a lot of backlash about this in the medical community where they are saying:
“You guys in academia talk a lot about personalized medicine. Well, I’m very personalized. I treat my patients as individuals.”
And you know they do. They do the best can with old technology and old diagnostic, but the truth is our technology has moved beyond that and patients want access to it.

23andMe: What might the work on Sarcomas mean for other kinds of research?

Demetri: Sarcomas tend to be driven by one dominant pathway, where if you shut it off the cancer gets better. GIST (gastrointenstinal stromal tumors) is a great example of that. But more common cancers are probably driven by two, or maybe three, mutated pathways or different disregulated pathways — kind of like HIV. We didn’t see people living with HIV for years, and, years, and years until we got to triple therapy. So the challenge for us now in cancer is how to identify the right molecular pathways and do the clinical trials and as quickly as possible move from using a single targeted drugs to giving triple therapies.

23andMe: We now have more than 800 people enrolled in our Sarcoma Community and are heading to 1,000. What is the significance of having that many people with Sarcoma in a research cohort?

Demetri: In research in general the quality of the community is important. The engagement of the community is important. It’s not just the number. But it is incredibly helpful to be able to have dialogue back and forth between the patients, doctors and researchers. Patients also want to be able to reach out to other patients. What I see in this tool is that possibility.
Having patients participate as part of the research will teach us a lot. It’s to the patients advantage to help us hone the data we’re collecting and to have the patients voice in there. Simply knowing things like ‘How did you feel taking this drug?’ That’s important. I think patients are frustrated that the health care system doesn’t already use that kind of data, their data, in an aggregated way.

23andMe: You are a nice combination of someone who is both very realistic but also very optimistic. What would you tell someone today who was just diagnosed with Sarcoma?

Demetri: Sarcoma is a scary diagnosis, but some may proceed with a nihilism that’s unwarranted. That nihilism is absolutely the first thing that we’ve tried to counteract in the last decade. I think the important thing with this is today half of all patients will be cured with conventional modalities. That’s terrific. That’s number one and even when we have somebody who doesn’t currently have the potential of being cured, I’ve been lucky enough to be part of developing drugs that made people who thought that they maybe had only had six weeks to live to still be alive 11 years later now. That is life changing. That is a transformational kind of research. And I’ve seen the power of that kind of research. I tell my patients I’m going to help them make decisions so that they buy as much time as possible, because we never know in research when we’re going to make the next major breakthrough that will make an incurable disease curable, or a fatal one into one that will be manageable.

I have read many of the papers that you have written. They were very good and I enjoyed the information provided.

I would like to know if you are looking at The Sarcoma community people and seeing how many also have the MPN genes listed on this site?. I also believe that Vitamin D deficiency may play a role in Sarcoma development or survival after diagnosis, Are you looking into that as well? Also are you looking into Matrix Mettaloproteinases as well? The importance of zinc? Also, they just listed Ewing Sarcoma genes on this site, Are you asking the people that have these genes if they did not have Ewing sarcoma as a child and if they took Cod Liver Oil as a child or other Vitamin supplements or mutivitamins with Vitamin D?

In your paper Neo-adjuvant chemotherapy for primary high-grade extremity soft tissue sarcoma the survivor chart with NAC,>10 shows an approximate 25 percent death rate between year 5 and 8 of the original total, higher if you compare the total at year 5 to year 8 somewhere in the 30 percent area. Was there a pattern, as in local or distant metastasis being the cause of death or say people over 65,etc.

Thank you and I am very appreciative of your work in this field.

Tom

http://23andme.com Shwu

Hi Tom,

Thanks for reading and for your thoughtful questions. We have forwarded your comments and appreciation to Dr. Demetri, but he may not be able to respond given his busy schedule. These are great discussion topics that may also be interesting to pose to the community on the forums, if you haven’t already!

Tom

I also wanted to know if you looked at the Vitamin D rs7041, rs4588, rs2282679 for the Sarcoma community members. thanks again

Angie

In November, my 290year-old sister was diagnosed with a sarcoma in her left hand. The diagnosis was shocking and perplexing, to say the least. Two weeks ago, the doctors amputated two of her fingers and part of her hand. I’m hopeful, yet nervous about her prognosis.
Should the rest of us (the immediate family members) be concerned that we may carry the gene that caused my sister to have this sarcoma? Should we demand genetic testing of some kind? And if so, is there anything we can do to prevent the development of a sarcoma in our bodies?
Any information you can offer me will be helpful.

http://23andme.com Shwu

Hi Angie,

We’re very sorry to hear of your sister’s diagnosis and wish her a good prognosis and speedy recovery.

Very few strong inherited genetic factors for sarcoma are known, if any, and the factors that have been identified so far contribute only a small amount to risk. As such, there isn’t really any genetic test available for sarcoma. Research into its causes and treatments has been slow given how rare it is and how many subtypes of sarcoma there are, but we are hopeful that with research initiatives like 23andMe’s Sarcoma Community we’ll be able to make some strides. You can learn more about our Sarcoma research here: http://www.23andme.com/sarcoma.

http://www.gistsupport.org Beverly Shirts

Thanks for this article on Dr. Demetri. He reached out and helped patients on the Web long before it was “fashionable” and is respectful and supportive of interaction and teamwork between physician and informed patients.

I wish all physicians would realize and welcome that patient support groups can help inform other patients, and instead of being dismissive or threatened by that? Be even half as supportive as Dr. Demetri has been, for well over a decade.

Thanks George!

http://www.gistsupport.org Beverly Shirts

Angie, get your hands on the pathology report. Find out exactly what kind of sarcoma she has, and then? Google is your friend. Focus on articles from NIH and other recognized sources. Also, look for a support group online that doesn’t ask you for money, and is impartial. There is a ton of information out there, but that path report is your beginning.

Ra

Good to see a physician work with support groups.

How does one contact the 23 labs team to rouse their interest to initiate a study by making them aware of a rare disease?

http://www.sarcomaalliance.com Suzie Siegel

Thank you, Dr. Demetri, for all of your research and patient care, as well as your desire to get accurate information out on the Internet.

For those who don’t know, Dr. Demetri also belongs to the Medical Advisory Board of the Sarcoma Alliance, which tries to use the Internet to inform people affected by sarcoma. We completely support 23andme.

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